Canonical Allele Identifier: CA381651631

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936301-C-A
• MyVariant Identifiers: chr11:g.68703769C>A (hg19) ; chr11:g.68936301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936301C>A , CM000673.2:g.68936301C>A	GRCh38
NC_000011.9:g.68703769C>A , CM000673.1:g.68703769C>A	GRCh37
NC_000011.8:g.68460345C>A	NCBI36
NG_007976.1:g.37451C>A , LRG_250:g.37451C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1821C>A MANE Select	ENSP00000255078.4:p.His607Gln
ENST00000674675.1:c.65C>A
ENST00000674878.1:c.65C>A
ENST00000674955.1:c.*538C>A	ENSP00000502463.1:n.*538C>A
ENST00000675118.1:c.1309C>A
ENST00000675389.1:n.96C>A
ENST00000675615.1:c.1821C>A	ENSP00000502413.1:p.His607Gln
ENST00000675648.1:n.1196C>A
ENST00000675916.1:c.65C>A
ENST00000676173.1:n.2566C>A
ENST00000676182.1:c.252C>A
ENST00000676228.1:c.*1144C>A	ENSP00000502375.1:n.*1144C>A
ENST00000255078.7:c.1821C>A	ENSP00000255078.3:p.His607Gln
ENST00000539064.5:n.1580C>A
ENST00000541229.5:n.516C>A
ENST00000543739.5:n.814C>A
ENST00000545475.1:n.417C>A
NM_002180.2:c.1821C>A , LRG_250t1:c.1821C>A	NP_002171.2:p.His607Gln
XM_005273974.2:c.810C>A	XP_005274031.1:p.His270Gln
XM_005273975.2:c.693C>A	XP_005274032.1:p.His231Gln
XM_011544994.1:c.588C>A	XP_011543296.1:p.His196Gln
XR_949903.1:n.1923C>A
XM_005273975.3:c.693C>A	XP_005274032.1:p.His231Gln
XM_017017669.2:c.810C>A	XP_016873158.1:p.His270Gln
XM_017017670.2:c.810C>A	XP_016873159.1:p.His270Gln
XR_949903.3:n.1919C>A
NM_002180.3:c.1821C>A MANE Select	NP_002171.2:p.His607Gln